SNP Links for Gene (Select 391356) - SNP

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Select item 14906344881.

rs1490634488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:24794206 (GRCh38)
2:25017075 (GRCh37)
Canonical SPDI:: NC_000002.12:24794205:G:A
Gene:: CENPO (Varview), PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.24794206G>A, NC_000002.11:g.25017075G>A, NG_054752.1:g.4177C>T

Select item 14904279382.

rs1490427938 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 2:24790937 (GRCh38)
2:25013806 (GRCh37)
Canonical SPDI:: NC_000002.12:24790933:TTTCTTT:TTT
Gene:: PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.002698/32 (ALFA)
-=0.000354/6 (TOMMO)
-=0.003253/348 (GnomAD)
-=0.014754/27 (Korea1K)
HGVS:: NC_000002.12:g.24790937_24790940del, NC_000002.11:g.25013806_25013809del, NG_054752.1:g.7446_7449del, XR_939843.4:n.1353_1356del, XR_939843.2:n.1383_1386del, XR_939843.1:n.1396_1399del, XR_007086245.1:n.1137_1140del

Select item 14891391213.

rs1489139121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:24791913 (GRCh38)
2:25014782 (GRCh37)
Canonical SPDI:: NC_000002.12:24791912:G:C
Gene:: CENPO (Varview), PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.24791913G>C, NC_000002.11:g.25014782G>C, NG_054752.1:g.6470C>G

Select item 14881600534.

rs1488160053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24790229 (GRCh38)
2:25013098 (GRCh37)
Canonical SPDI:: NC_000002.12:24790228:C:T
Gene:: PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.24790229C>T, NC_000002.11:g.25013098C>T, NG_054752.1:g.8154G>A, NM_001013663.2:c.*182G>A

Select item 14881186735.

rs1488118673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:24789826 (GRCh38)
2:25012695 (GRCh37)
Canonical SPDI:: NC_000002.12:24789825:G:C
Gene:: PTRHD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.24789826G>C, NC_000002.11:g.25012695G>C, NG_054752.1:g.8557C>G, NM_001013663.2:c.*585C>G

Select item 14880049326.

rs1488004932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:24792142 (GRCh38)
2:25015011 (GRCh37)
Canonical SPDI:: NC_000002.12:24792141:G:C
Gene:: CENPO (Varview), PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.24792142G>C, NC_000002.11:g.25015011G>C, NG_054752.1:g.6241C>G

Select item 14879900517.

rs1487990051 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGAGCCACCAC>- [Show Flanks]
Chromosome:: 2:24792892 (GRCh38)
2:25015761 (GRCh37)
Canonical SPDI:: NC_000002.12:24792888:CACAGGAGCCACCAC:CAC
Gene:: CENPO (Varview), PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000495/8 (TOMMO)
HGVS:: NC_000002.12:g.24792892_24792903del, NC_000002.11:g.25015761_25015772del, NG_054752.1:g.5483_5494del, XR_939843.4:n.176_187del, XR_939843.3:n.206_217del, XR_939843.2:n.206_217del, XR_939843.1:n.219_230del, XR_001739341.2:n.176_187del, XR_001739341.1:n.206_217del

Select item 14868350938.

rs1486835093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:24793971 (GRCh38)
2:25016840 (GRCh37)
Canonical SPDI:: NC_000002.12:24793970:C:G,NC_000002.12:24793970:C:T
Gene:: CENPO (Varview), PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.24793971C>G, NC_000002.12:g.24793971C>T, NC_000002.11:g.25016840C>G, NC_000002.11:g.25016840C>T, NG_054752.1:g.4412G>C, NG_054752.1:g.4412G>A

Select item 14862220449.

rs1486222044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:24792363 (GRCh38)
2:25015232 (GRCh37)
Canonical SPDI:: NC_000002.12:24792362:A:T
Gene:: CENPO (Varview), PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.24792363A>T, NC_000002.11:g.25015232A>T, NG_054752.1:g.6020T>A

Select item 148587284110.

rs1485872841 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:24790900 (GRCh38)
2:25013769 (GRCh37)
Canonical SPDI:: NC_000002.12:24790899:T:C
Gene:: PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.24790900T>C, NC_000002.11:g.25013769T>C, NG_054752.1:g.7483A>G, XR_939843.4:n.1390A>G, XR_939843.2:n.1420A>G, XR_939843.1:n.1433A>G, XR_007086245.1:n.1174A>G

Select item 148574940611.

rs1485749406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24790397 (GRCh38)
2:25013266 (GRCh37)
Canonical SPDI:: NC_000002.12:24790396:C:T
Gene:: PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.24790397C>T, NC_000002.11:g.25013266C>T, NG_054752.1:g.7986G>A, NM_001013663.2:c.*14G>A, NM_001013663.1:c.*14G>A

Select item 148557417212.

rs1485574172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:24794289 (GRCh38)
2:25017158 (GRCh37)
Canonical SPDI:: NC_000002.12:24794288:A:T
Gene:: CENPO (Varview), PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.24794289A>T, NC_000002.11:g.25017158A>T, NG_054752.1:g.4094T>A

Select item 148444836113.

rs1484448361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24791502 (GRCh38)
2:25014371 (GRCh37)
Canonical SPDI:: NC_000002.12:24791501:C:T
Gene:: CENPO (Varview), PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.24791502C>T, NC_000002.11:g.25014371C>T, NG_054752.1:g.6881G>A, XR_939843.4:n.788G>A, XR_939843.3:n.818G>A, XR_939843.2:n.818G>A, XR_939843.1:n.831G>A, XR_001739341.2:n.788G>A, XR_001739341.1:n.818G>A, XR_007086245.1:n.572G>A

Select item 148444219714.

rs1484442197 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:24790417 (GRCh38)
2:25013286 (GRCh37)
Canonical SPDI:: NC_000002.12:24790416:G:A
Gene:: PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.24790417G>A, NC_000002.11:g.25013286G>A, NG_054752.1:g.7966C>T, NM_001013663.2:c.417C>T, NM_001013663.1:c.417C>T

Select item 148416046915.

rs1484160469 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:24794576 (GRCh38)
2:25017445 (GRCh37)
Canonical SPDI:: NC_000002.12:24794572:TGTGT:TGT
Gene:: CENPO (Varview), PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.24794574GT[1], NC_000002.11:g.25017443GT[1], NG_054752.1:g.3807CA[1]

Select item 148259561216.

rs1482595612 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGCGGGATGG>- [Show Flanks]
Chromosome:: 2:24793651 (GRCh38)
2:25016520 (GRCh37)
Canonical SPDI:: NC_000002.12:24793648:GGCCGCGGGATGG:GG
Gene:: CENPO (Varview), PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.24793651_24793661del, NC_000002.11:g.25016520_25016530del, NG_054752.1:g.4724_4734del

Select item 148117613217.

rs1481176132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:24790515 (GRCh38)
2:25013384 (GRCh37)
Canonical SPDI:: NC_000002.12:24790514:G:C
Gene:: PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.24790515G>C, NC_000002.11:g.25013384G>C, NG_054752.1:g.7868C>G, NM_001013663.2:c.319C>G, NM_001013663.1:c.319C>G, NP_001013685.1:p.Leu107Val

Select item 148098088818.

rs1480980888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24793081 (GRCh38)
2:25015950 (GRCh37)
Canonical SPDI:: NC_000002.12:24793080:C:T
Gene:: CENPO (Varview), PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
HGVS:: NC_000002.12:g.24793081C>T, NC_000002.11:g.25015950C>T, NG_054752.1:g.5302G>A

Select item 148042086719.

rs1480420867 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:24792543 (GRCh38)
2:25015412 (GRCh37)
Canonical SPDI:: NC_000002.12:24792542:A:G
Gene:: CENPO (Varview), PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.24792543A>G, NC_000002.11:g.25015412A>G, NG_054752.1:g.5840T>C, XR_939843.4:n.351T>C, XR_939843.3:n.381T>C, XR_939843.2:n.381T>C, XR_939843.1:n.394T>C, XR_001739341.2:n.351T>C, XR_001739341.1:n.381T>C, XR_007086245.1:n.135T>C

Select item 148032879920.

rs1480328799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:24793875 (GRCh38)
2:25016744 (GRCh37)
Canonical SPDI:: NC_000002.12:24793874:C:T
Gene:: CENPO (Varview), PTRHD1 (Varview), LOC105369164 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.24793875C>T, NC_000002.11:g.25016744C>T, NG_054752.1:g.4508G>A, NM_024322.4:c.-45C>T, NM_024322.3:c.-45C>T, NM_024322.2:c.-45C>T, NM_001322101.2:c.-45C>T, NM_001322101.1:c.-45C>T

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